Novel PAX4 variant in a child and family with diabetes mellitus - case report and review of the literature
Objectives: PAX4 (Paired box 4), a transcription factor crucial in pancreatic beta cell development and function, is a rare cause of maturity-onset diabetes of the young (MODY). What is new? A novel PAX4 variant is verified by family segregation study to be likely pathogenic. A child below 10 years...
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| Format: | Article |
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Walter de Gruyter GmbH
2023
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| _version_ | 1825939803922759680 |
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| author | Lee, Yee-Lin Ting, Tzer-Hwu Lim, Chong-Teik Arrumugam, Crystal Arthini Karuppiah, Thilakavathy Ling, King-Hwa |
| author_facet | Lee, Yee-Lin Ting, Tzer-Hwu Lim, Chong-Teik Arrumugam, Crystal Arthini Karuppiah, Thilakavathy Ling, King-Hwa |
| author_sort | Lee, Yee-Lin |
| collection | UPM |
| description | Objectives: PAX4 (Paired box 4), a transcription factor crucial in pancreatic beta cell development and function, is a rare cause of maturity-onset diabetes of the young (MODY). What is new? A novel PAX4 variant is verified by family segregation study to be likely pathogenic. A child below 10 years of age diagnosed to have PAX4-MODY, differing from previously reported paediatric cases diagnosed in adolescence. Case presentation: A child with diabetes diagnosed at age 8 years, harbored a PAX4 variant, c.890G>A (p.Gly297Asp), initially classified as variant of uncertain significance. Eleven family members (7 adults and 4 children) with and without diabetes across 3 generations were genotyped. The variant co-segregated with diabetes or prediabetes across 3 generations of the family. The variant is reclassified as likely pathogenic according to standard guidelines. Conclusion: Genetic testing is essential to confirm PAX4-- MODY as the presentation is variable even within the same family. PAX4 mutation needs to be considered in MODY genetic testing in Asian patients. |
| first_indexed | 2024-09-25T03:42:21Z |
| format | Article |
| id | upm.eprints-110050 |
| institution | Universiti Putra Malaysia |
| last_indexed | 2024-09-25T03:42:21Z |
| publishDate | 2023 |
| publisher | Walter de Gruyter GmbH |
| record_format | dspace |
| spelling | upm.eprints-1100502024-09-09T04:40:02Z http://psasir.upm.edu.my/id/eprint/110050/ Novel PAX4 variant in a child and family with diabetes mellitus - case report and review of the literature Lee, Yee-Lin Ting, Tzer-Hwu Lim, Chong-Teik Arrumugam, Crystal Arthini Karuppiah, Thilakavathy Ling, King-Hwa Objectives: PAX4 (Paired box 4), a transcription factor crucial in pancreatic beta cell development and function, is a rare cause of maturity-onset diabetes of the young (MODY). What is new? A novel PAX4 variant is verified by family segregation study to be likely pathogenic. A child below 10 years of age diagnosed to have PAX4-MODY, differing from previously reported paediatric cases diagnosed in adolescence. Case presentation: A child with diabetes diagnosed at age 8 years, harbored a PAX4 variant, c.890G>A (p.Gly297Asp), initially classified as variant of uncertain significance. Eleven family members (7 adults and 4 children) with and without diabetes across 3 generations were genotyped. The variant co-segregated with diabetes or prediabetes across 3 generations of the family. The variant is reclassified as likely pathogenic according to standard guidelines. Conclusion: Genetic testing is essential to confirm PAX4-- MODY as the presentation is variable even within the same family. PAX4 mutation needs to be considered in MODY genetic testing in Asian patients. Walter de Gruyter GmbH 2023 Article PeerReviewed Lee, Yee-Lin and Ting, Tzer-Hwu and Lim, Chong-Teik and Arrumugam, Crystal Arthini and Karuppiah, Thilakavathy and Ling, King-Hwa (2023) Novel PAX4 variant in a child and family with diabetes mellitus - case report and review of the literature. Journal of Pediatric Endocrinology and Metabolism, 36 (10). 988 -992. ISSN 0334-018X; ESSN: 2191-0251 https://www.degruyter.com/document/doi/10.1515/jpem-2023-0171/html 10.1515/jpem-2023-0171 |
| spellingShingle | Lee, Yee-Lin Ting, Tzer-Hwu Lim, Chong-Teik Arrumugam, Crystal Arthini Karuppiah, Thilakavathy Ling, King-Hwa Novel PAX4 variant in a child and family with diabetes mellitus - case report and review of the literature |
| title | Novel PAX4 variant in a child and family with diabetes mellitus - case report and review of the literature |
| title_full | Novel PAX4 variant in a child and family with diabetes mellitus - case report and review of the literature |
| title_fullStr | Novel PAX4 variant in a child and family with diabetes mellitus - case report and review of the literature |
| title_full_unstemmed | Novel PAX4 variant in a child and family with diabetes mellitus - case report and review of the literature |
| title_short | Novel PAX4 variant in a child and family with diabetes mellitus - case report and review of the literature |
| title_sort | novel pax4 variant in a child and family with diabetes mellitus case report and review of the literature |
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